Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
small nuclear ribonucleoprotein N
Synonyms:
2410045I01Rik,  Pwcr1,  Peg4

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Snrpn mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Snrpn by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Prader-Willi Syndrome Due To Imprinting Mutation
Obesity, Short stature, Polyphagia ORPHA:177910
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Obesity, Polyphagia ORPHA:411515
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Polyphagia, Small for gestational age, Failure to thrive, Short stature, Bulimia, Obesity, Delaye... ORPHA:98754
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Polyphagia, Small for gestational age, Failure to thrive, Short stature, Bulimia, Obesity, Delaye... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Polyphagia, Small for gestational age, Failure to thrive, Short stature, Bulimia, Obesity, Delaye... ORPHA:177901
Prader-Willi Syndrome
Failure to thrive in infancy, Short stature, Polyphagia, Abdominal obesity, Obesity, Delayed puberty OMIM:176270
Prader-Willi Syndrome Due To Translocation
Obesity, Intrauterine growth retardation, Short stature ORPHA:177907

The table below shows human diseases predicted to be associated to Snrpn by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Intrauterine growth retardation, Dehydration, Transient neonatal diabetes mellitus OMIM:601410
Phosphoserine Phosphatase Deficiency
Postnatal growth retardation, Intrauterine growth retardation OMIM:614023
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Intrauterine growth retardation, Hyperglycemia, Diabetic ketoacidosis, Maturit... ORPHA:99886
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Postnatal growth retardation, Short stature, Abdominal obesity, Truncal obesity OMIM:618160
Chronic Hiccup
Dehydration, Abnormal eating behavior ORPHA:396
Familial Renal Glucosuria
Moderate postnatal growth retardation, Dehydration, Glycosuria ORPHA:69076
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age OMIM:240900
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Combined Oxidative Phosphorylation Deficiency 47
Hypoglycemia, Dysphagia, Dehydration, Intrauterine growth retardation OMIM:618958
Isobutyryl-Coa Dehydrogenase Deficiency
Dehydration, Ketotic hypoglycemia ORPHA:79159
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Obesity, Joint contracture of the hand, Short stature, Camptodactyly OMIM:264010
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Macrosomia With Microphthalmia, Lethal
Large for gestational age OMIM:248110
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity OMIM:616521
Diarrhea 2, With Microvillus Atrophy
Dehydration, Growth delay OMIM:251850
Acromegaloid Facial Appearance Syndrome
Large for gestational age OMIM:102150
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age ORPHA:356996
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Obesity, Childhood-onset truncal obesity, Polyphagia ORPHA:71529
Macrosomia Adiposa Congenita
Obesity, Polyphagia, Large for gestational age OMIM:248100
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Obesity Due To Prohormone Convertase I Deficiency
Increased adipose tissue, Growth delay, Polyphagia, Failure to thrive, Delayed puberty, Obesity, ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Increased adipose tissue, Growth delay, Polyphagia, Failure to thrive, Delayed puberty, Obesity, ... ORPHA:71526
Carcinoma Of Esophagus
Obesity, Weight loss, Dysphagia ORPHA:70482
Pituitary Hormone Deficiency, Combined, 4
Pituitary dwarfism, Hypoglycemia, Severe postnatal growth retardation, Short stature OMIM:262700
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia, Growth delay, Short stature, Delayed puberty ORPHA:314802
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Gilbert Syndrome
Dehydration OMIM:143500
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity, Short stature OMIM:619058
Diarrhea 4, Malabsorptive, Congenital
Dehydration OMIM:610370
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Inflammatory Skin And Bowel Disease, Neonatal, 2
Edema, Dehydration OMIM:616069
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Short stature, Polyphagia ORPHA:329249
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Intrauterine growth retardation, Hypoglycemia, Severe short stature OMIM:223500
Combined Malonic And Methylmalonic Acidemia
Hypoglycemia, Dehydration ORPHA:289504
Combined Malonic And Methylmalonic Aciduria
Dehydration OMIM:614265
Bardet-Biedl Syndrome 12
Obesity OMIM:615989
Hypocalcemia, Autosomal Dominant 2
Postnatal growth retardation OMIM:615361
Body Mass Index Quantitative Trait Locus 20
Obesity, Polyphagia, Tall stature OMIM:618406
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Obesity, Growth delay, Short stature ORPHA:171706
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Truncal obesity, Large for gestational age ORPHA:293964
Syndromic X-Linked Intellectual Disability 7
Obesity, Short stature ORPHA:85274
Narcolepsy Type 1
Obesity ORPHA:2073
Silver-Russell Syndrome Due To 11P15 Microduplication
Severe intrauterine growth retardation, Intrauterine growth retardation, Short stature, Small for... ORPHA:231144
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hernia of the abdominal wall, Obesity, Short stature ORPHA:3055
Glycogen Storage Disease Vi
Failure to thrive in infancy, Postnatal growth retardation OMIM:232700
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Dehydration OMIM:602199
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age OMIM:256450
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity OMIM:309585
Enteric Anendocrinosis
Dehydration, Type I diabetes mellitus ORPHA:83620
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Hernández-Aguirre Negrete Syndrome
Obesity, Delayed puberty ORPHA:2139
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age OMIM:601820
Obesity, Hyperphagia, And Developmental Delay
Obesity, Polyphagia OMIM:613886
Hyperchlorhidrosis, Isolated
Hypernatremic dehydration, Dehydration OMIM:143860
Familial Cold Urticaria
Dehydration, Polydipsia ORPHA:47045
Bardet-Biedl Syndrome 22
Obesity, Polyphagia, Large for gestational age OMIM:617119
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Short stature OMIM:615925
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Central Diabetes Insipidus
Dehydration, Polydipsia ORPHA:178029
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Intrauterine growth retardation OMIM:600546
Summitt Syndrome
Obesity OMIM:272350
Bardet-Biedl Syndrome 10
Obesity OMIM:615987
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia OMIM:610021
Glucose/Galactose Malabsorption
Hypertonic dehydration, Glycosuria, Abnormal oral glucose tolerance OMIM:606824
Central Precocious Puberty
Obesity, Overgrowth, Proportionate short stature, Increased body weight ORPHA:759
Leptin Receptor Deficiency
Short stature, Polyphagia, Abnormal eating behavior, Obesity, Delayed puberty OMIM:614963
Cystinosis
Short stature, Polydipsia, Type I diabetes mellitus, Dehydration, Delayed puberty ORPHA:213
Adiposis Dolorosa
Obesity, Painful subcutaneous lipomas OMIM:103200
Bardet-Biedl Syndrome 6
Obesity OMIM:605231
Leptin Deficiency Or Dysfunction
Obesity, Abnormal eating behavior, Polyphagia OMIM:614962
Vitamin B12-Responsive Methylmalonic Acidemia
Dehydration ORPHA:28
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age ORPHA:2432
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Dehydration, Growth delay OMIM:602722
Reticular Dysgenesis
Dehydration ORPHA:33355
Prader-Willi Syndrome Due To Imprinting Mutation
Obesity, Short stature, Polyphagia ORPHA:177910
Temple Syndrome
Short stature, Polyphagia, Small for gestational age, Postnatal growth retardation, Obesity ORPHA:254516
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Increased body mass index, Growth delay, Increased body weight OMIM:614450
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Dehydration, Diabetes mellitus, Type I diabetes mellitus OMIM:560000
Propionic Acidemia
Hypoglycemia, Dehydration, Short stature OMIM:606054
Biemond Syndrome Type 2
Obesity, Delayed puberty, Short stature ORPHA:141333
Early-Onset Familial Hypoaldosteronism
Postnatal growth retardation, Dehydration ORPHA:556030
Beta-Ketothiolase Deficiency
Hypoglycemia, Hyperglycemia, Edema, Oral aversion, Dehydration ORPHA:134
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Autism, Susceptibility To, 18
Overweight, Tall stature OMIM:615032
Temple Syndrome
Intrauterine growth retardation, Short stature, Small for gestational age, Truncal obesity, Flexi... OMIM:616222
Congenital Enterocyte Heparan Sulfate Deficiency
Edema, Dehydration ORPHA:103910
Corticosterone Methyloxidase Type Ii Deficiency
Dehydration, Growth delay OMIM:610600
Corticosterone Methyloxidase Type I Deficiency
Dehydration, Growth delay OMIM:203400
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Omphalocele, Overgrowth, Small for gestational age, Large for gestational age, Postnatal growth r... ORPHA:254534
Trisomy 5P
Obesity, Short stature ORPHA:1742
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Obesity, Short stature OMIM:618124
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dehydration ORPHA:79312
Short Stature-Obesity Syndrome
Obesity, Short stature OMIM:269870
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Obesity, Postnatal growth retardation, Intrauterine growth retardation ORPHA:254525
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Oral-pharyngeal dysphagia, Obesity, Postnatal growth retardation, Lipoma ORPHA:480907
Isovaleric Acidemia
Dehydration OMIM:243500
Secondary Short Bowel Syndrome
Dehydration, Growth delay, Polyphagia ORPHA:95427
Hyperostosis Frontalis Interna
Obesity OMIM:144800
Hypercalcemia, Infantile, 1
Dehydration OMIM:143880
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Obesity Due To Sim1 Deficiency
Obesity, Polyphagia ORPHA:369873
Bardet-Biedl Syndrome 19
Obesity OMIM:615996
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Neonatal death, Oligohydramnios, Dehydration OMIM:263200
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Obesity, Polyphagia OMIM:609734
Lamellar Ichthyosis
Dehydration, Short stature ORPHA:313
Vitamin B12-Unresponsive Methylmalonic Acidemia
Dehydration ORPHA:27
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypertonic dehydration, Short stature, Polydipsia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypertonic dehydration, Short stature, Polydipsia OMIM:304800
Pseudopseudohypoparathyroidism
Obesity, Intrauterine growth retardation, Short stature ORPHA:79445
Methylmalonyl-Coa Epimerase Deficiency
Dehydration OMIM:251120
Wolcott-Rallison Syndrome
Growth delay, Short stature, Ascites, Neonatal insulin-dependent diabetes mellitus, Dehydration ORPHA:1667
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Intrauterine growth retardation OMIM:609054
Autosomal Agammaglobulinemia
Dehydration ORPHA:33110
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Dehydration, Hyperinsulinemia, Insulin resistance ORPHA:230
Diarrhea 1, Secretory Chloride, Congenital
Dehydration, Growth delay, Polyhydramnios OMIM:214700
Generalized Pseudohypoaldosteronism Type 1
Proportionate short stature, Dehydration ORPHA:171876
Netherton Syndrome
Dehydration, Short stature ORPHA:634
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Dehydration OMIM:264350
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Obesity, Short stature ORPHA:2233
Cortisone Reductase Deficiency 1
Obesity OMIM:604931
Harlequin Ichthyosis
Dehydration ORPHA:457
Abcd Syndrome
Large for gestational age OMIM:600501
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Dehydration OMIM:251000
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Obesity, Postnatal growth retardation, Intrauterine growth retardation ORPHA:254531
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Obesity, Postnatal growth retardation, Growth delay OMIM:600122
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Dehydration OMIM:208085
Halothane Hepatitis
Obesity OMIM:234350
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity ORPHA:88643
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Dehydration OMIM:177735
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, Short stature, Insulin-resistant diabetes mellitus, Diabetic ... OMIM:262190
Schaaf-Yang Syndrome
Failure to thrive in infancy, Polyphagia, Short stature, Arthrogryposis multiplex congenita, Flex... OMIM:615547
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Intrauterine growth retardation, Short stature, Small for gestational age, Truncal obesity, Postn... ORPHA:96184
Hydrocephalus-Obesity-Hypogonadism Syndrome
Obesity, Short stature ORPHA:2183
Bardet-Biedl Syndrome 9
Obesity, Polydipsia, Polyphagia, Truncal obesity OMIM:615986
Nephronophthisis 15
Obesity OMIM:614845
Adrenal Hypoplasia, Congenital
Dehydration, Delayed puberty OMIM:300200
3-Hydroxy-3-Methylglutaric Aciduria
Recurrent hypoglycemia, Nonketotic hypoglycemia, Edema, Dehydration ORPHA:20
Pseudopseudohypoparathyroidism
Obesity, Enamel hypoplasia, Short stature OMIM:612463
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Atkin-Flaitz Syndrome
Obesity, Short stature ORPHA:1193
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Obesity, Polyphagia ORPHA:411515
Renal Hypoplasia
Dehydration, Polydipsia ORPHA:93101
Dend Syndrome
Hyperglycemia, Dehydration ORPHA:79134
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Nephrogenic Diabetes Insipidus
Growth delay, Short stature, Polydipsia, Hypernatremic dehydration, Polyhydramnios ORPHA:223
Isolated Permanent Neonatal Diabetes Mellitus
Intrauterine growth retardation, Hyperglycemia, Glycosuria, Neonatal insulin-dependent diabetes m... ORPHA:99885
Paternal Uniparental Disomy Of Chromosome 6
Intrauterine growth retardation, Postnatal growth retardation, Oligohydramnios, Neonatal insulin-... ORPHA:96191
Infantile Nephropathic Cystinosis
Growth delay, Dehydration, Glycosuria, Polydipsia ORPHA:411629
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures
Obesity, Short stature OMIM:618822
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Cystinosis, Nephropathic
Dysphagia, Growth delay, Polydipsia, Short stature, Glycosuria, Diabetes mellitus, Oral-pharyngea... OMIM:219800
Myofibrillar Myopathy 11
Dysphagia, Overweight OMIM:619178
13Q12.3 Microdeletion Syndrome
Intrauterine growth retardation, Short stature, Failure to thrive, Congenital diaphragmatic herni... ORPHA:412035
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight ORPHA:276608
Cholera
Hypoglycemia, Dehydration ORPHA:173
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hypoglycemia, Intrauterine growth retardation, Growth delay, Dehydration, Hydrops fetalis ORPHA:79282
Hypothyroidism, Central, With Testicular Enlargement
Overweight OMIM:300888
Proximal Renal Tubular Acidosis
Mild postnatal growth retardation, Growth delay, Short stature, Polydipsia, Glycosuria, Dehydration ORPHA:47159
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Dehydration, Neonatal hypoglycemia ORPHA:90791
Pyruvate Carboxylase Deficiency
Hyperglycemia, Hypoglycemia, Dehydration, Growth delay ORPHA:3008
Pearson Syndrome
Dysphagia, Growth delay, Corneal stromal edema, Glycosuria, Postnatal growth retardation, Diabete... ORPHA:699
Joubert Syndrome 32
Large for gestational age, Tall stature OMIM:617757
Bardet-Biedl Syndrome 8
Obesity OMIM:615985
Glucose-Galactose Malabsorption
Dehydration ORPHA:35710
Microvillus Inclusion Disease
Dehydration ORPHA:2290
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Oligomeganephronia
Dehydration, Polydipsia ORPHA:2260
Congenital Tufting Enteropathy
Dehydration ORPHA:92050
Methylmalonic Aciduria, Cblb Type
Dehydration OMIM:251110
Body Mass Index Quantitative Trait Locus 19
Obesity OMIM:617885
Combined Oxidative Phosphorylation Deficiency 40
Neonatal death, Nonimmune hydrops fetalis, Hypoglycemia, Intrauterine growth retardation OMIM:618835
Methylmalonic Aciduria, Cbla Type
Dehydration OMIM:251100
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Nonimmune hydrops fetalis, Hypoglycemia, Intrauterine growth retardation OMIM:618839
Coenzyme Q10 Deficiency, Primary, 2
Obesity OMIM:614651
Shigellosis
Hypoglycemia, Dehydration ORPHA:810
Distal Renal Tubular Acidosis
Short stature, Dehydration, Growth delay, Polydipsia ORPHA:18
Juvenile Nephropathic Cystinosis
Growth delay, Dehydration, Glycosuria, Polydipsia ORPHA:411634
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Obesity, Short stature, Eunuchoid habitus ORPHA:2234
Luscan-Lumish Syndrome
Obesity, Overgrowth, Short stature, Polyphagia OMIM:616831
Shox-Related Short Stature
Obesity, Short stature ORPHA:314795
Alternating Hemiplegia Of Childhood
Oral-pharyngeal dysphagia, Dysphagia, Dehydration ORPHA:2131
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Dehydration, Delayed puberty, Neonatal hypoglycemia ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Dehydration, Delayed puberty, Neonatal hypoglycemia ORPHA:289548
Primary Fanconi Renotubular Syndrome
Hypoglycemia, Dehydration, Growth delay, Glycosuria ORPHA:3337
Osteootohepatoenteric Syndrome
Dehydration OMIM:619377
Smith-Magenis Syndrome
Short stature, Increased body weight OMIM:182290
X-Linked Intellectual Disability, Shashi Type
Obesity ORPHA:85286
Pigmented Nodular Adrenocortical Disease, Primary, 4
Dorsocervical fat pad, Increased body weight OMIM:615830
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased body weight OMIM:615954
Bardet-Biedl Syndrome 3
Obesity OMIM:600151
Neuroleptic Malignant Syndrome
Dysphagia, Dehydration ORPHA:94093
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Obesity OMIM:610628
Insulinoma
Polyphagia, Increased body weight ORPHA:97279
Pseudohypoparathyroidism, Type Ib
Obesity OMIM:603233
Vipoma
Dehydration, Diabetes mellitus, Ascites ORPHA:97282
Blue Diaper Syndrome
Increased body weight ORPHA:94086
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Failure to thrive, Obesity, Intrauterine growth retardation, Umbilical hernia OMIM:612938
Paternal Uniparental Disomy Of Chromosome 1
Short stature, Polyphagia, Abnormal dental enamel morphology, Obesity, Delayed puberty ORPHA:251004
Netherton Syndrome
Hypernatremic dehydration, Angioedema OMIM:256500
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Obesity OMIM:601794
Colchicine Poisoning
Dehydration ORPHA:31824
Bartter Syndrome, Type 3
Dehydration OMIM:607364
Wilson Disease
Failure to thrive, Weight loss, Increased body weight ORPHA:905
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Bartter Syndrome, Type 2, Antenatal
Short stature, Dehydration, Polydipsia, Polyhydramnios OMIM:241200
Oculocerebrorenal Syndrome Of Lowe
Dehydration, Joint swelling, Short stature, Delayed puberty ORPHA:534
Narcolepsy 7
Obesity OMIM:614250
Microcephalic Primordial Dwarfism, Dauber Type
Severe intrauterine growth retardation, Obesity, Severe postnatal growth retardation, Short stature ORPHA:319675
Lysosomal Acid Lipase Deficiency
Dehydration, Ascites ORPHA:275761
Obesity Due To Congenital Leptin Deficiency
Obesity, Polyphagia ORPHA:66628
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Kagami-Ogata Syndrome
Omphalocele, Dysphagia, Overgrowth, Large for gestational age, Postnatal growth retardation, Ingu... ORPHA:254519
Hyperinsulinism Due To Hnf4A Deficiency
Increased body weight, Large for gestational age ORPHA:263455
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Dehydration ORPHA:90038
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Short stature, Large for gestational age OMIM:616026
Proprotein Convertase 1/3 Deficiency
Obesity OMIM:600955
Bartter Syndrome, Type 1, Antenatal
Short stature, Dehydration, Polyhydramnios OMIM:601678
Primary Pigmented Nodular Adrenocortical Disease
Growth delay, Dorsocervical fat pad, Abnormal subcutaneous fat tissue distribution, Abdominal obe... ORPHA:189439
Magel2-Related Prader-Willi-Like Syndrome
Polyphagia, Short stature, Failure to thrive, Abdominal obesity, Flexion contracture, Increased b... ORPHA:398069
Congenital Analbuminemia
Obesity, Lipodystrophy, Small for gestational age ORPHA:86816
Severe Generalized Junctional Epidermolysis Bullosa
Edema, Dehydration, Growth delay ORPHA:79404
Marburg Hemorrhagic Fever
Hypoglycemia, Dehydration ORPHA:99826
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Dehydration, Short stature, Neonatal hypoglycemia ORPHA:90794
Microsporidiosis
Dehydration ORPHA:2552
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Short stature, Postnatal growth retardation, Increased body weight ORPHA:79240
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Growth delay, Short stature, Failure to thrive, Delayed puberty, Increased body weight ORPHA:264580
Craniopharyngioma
Growth delay, Polyphagia, Proportionate short stature, Postnatal growth retardation, Obesity, Del... ORPHA:54595
Resistance To Thyrotropin-Releasing Hormone Syndrome
Growth delay, Overweight ORPHA:99832
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Polyphagia, Small for gestational age, Failure to thrive, Short stature, Bulimia, Obesity, Delaye... ORPHA:98754
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Dorsocervical fat pad, Abdominal obesity, Increased body weight ORPHA:189427
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Polyphagia, Small for gestational age, Failure to thrive, Short stature, Bulimia, Obesity, Delaye... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Polyphagia, Small for gestational age, Failure to thrive, Short stature, Bulimia, Obesity, Delaye... ORPHA:177901
Familial Primary Hypomagnesemia With Normocalciuria And Normocalcemia
Obesity ORPHA:34527
Mody
Obesity, Intrauterine growth retardation, Large for gestational age, Overweight ORPHA:552
Prader-Willi Syndrome
Failure to thrive in infancy, Short stature, Polyphagia, Abdominal obesity, Obesity, Delayed puberty OMIM:176270
Multiple Endocrine Neoplasia Type 1
Dehydration ORPHA:652
Infantile Bartter Syndrome With Sensorineural Deafness
Dehydration, Polyhydramnios ORPHA:89938
Adrenocortical Carcinoma
Weight loss, Increased body weight ORPHA:1501
Cystic Fibrosis
Dehydration OMIM:219700
Abdominal Obesity-Metabolic Syndrome 4
Obesity OMIM:618620
Aromatase Deficiency
Obesity, Growth delay, Eunuchoid habitus, Tall stature ORPHA:91
1P21.3 Microdeletion Syndrome
Obesity, Abnormal eating behavior ORPHA:293948
Insulin-Resistance Syndrome Type B
Weight loss, Decreased body weight, Abnormality of body weight, Increased body weight ORPHA:2298
Joubert Syndrome 39
Joint contracture of the 5th finger, Overweight OMIM:619562
Hellp Syndrome
Increased body weight ORPHA:244242
Cushing Disease
Dorsocervical fat pad, Increased body weight, Truncal obesity, Abdominal obesity ORPHA:96253
Prader-Willi Syndrome Due To Translocation
Obesity, Intrauterine growth retardation, Short stature ORPHA:177907
Cushing Syndrome Due To Ectopic Acth Secretion
Weight loss, Dorsocervical fat pad, Truncal obesity, Abdominal obesity, Increased body weight ORPHA:99889
Carney Complex
Dorsocervical fat pad, Abdominal obesity, Increased body weight, Tall stature ORPHA:1359

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Snrpn

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Snrpn.

No publications found that use IMPC mice or data for Snrpn.

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MGI Allele Allele Type Produced
Snrpntm94214(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Snrpntm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Snrpntm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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